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Ehlers-Danlos syndrome, dominant type 4

MedGen UID:
541286
•Concept ID:
C0268339
•
Disease or Syndrome
Synonym: autosomal dominant Ehlers-Danlos syndrome, vascular type
 
Monarch Initiative: MONDO:0007524

Definition

The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. [from MONDO]

Professional guidelines

PubMed

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS
Am J Med Genet A 2020 May;182(5):994-1007. Epub 2020 Feb 24 doi: 10.1002/ajmg.a.61523. PMID: 32091183
Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N, Frishman WH
Cardiol Rev 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. PMID: 22143279
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

Recent clinical studies

Etiology

Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy.
Ishikawa S, Kosho T, Kaminaga T, Miyamoto M, Hamasaki Y, Yoshihara S, Hayashi S, Igawa K
J Dermatol 2021 Apr;48(4):481-485. Epub 2021 Feb 1 doi: 10.1111/1346-8138.15766. PMID: 33523542
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.
Wang XJ, Babameto M, Babovic-Vuksanovic D, Bowen JM, Camilleri M
Dig Dis Sci 2021 Apr;66(4):1142-1152. Epub 2020 Apr 18 doi: 10.1007/s10620-020-06265-8. PMID: 32306189Free PMC Article
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N, Frishman WH
Cardiol Rev 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. PMID: 22143279
Genetics of intracranial aneurysms.
Schievink WI
Neurosurgery 1997 Apr;40(4):651-62; discussion 662-3. doi: 10.1097/00006123-199704000-00001. PMID: 9092838

Diagnosis

Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy.
Ishikawa S, Kosho T, Kaminaga T, Miyamoto M, Hamasaki Y, Yoshihara S, Hayashi S, Igawa K
J Dermatol 2021 Apr;48(4):481-485. Epub 2021 Feb 1 doi: 10.1111/1346-8138.15766. PMID: 33523542
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.
Wang XJ, Babameto M, Babovic-Vuksanovic D, Bowen JM, Camilleri M
Dig Dis Sci 2021 Apr;66(4):1142-1152. Epub 2020 Apr 18 doi: 10.1007/s10620-020-06265-8. PMID: 32306189Free PMC Article
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N
J Med Genet 2020 Nov;57(11):769-776. Epub 2020 May 28 doi: 10.1136/jmedgenet-2019-106689. PMID: 32467296
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N, Frishman WH
Cardiol Rev 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. PMID: 22143279

Therapy

Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N, Frishman WH
Cardiol Rev 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. PMID: 22143279

Prognosis

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.
Abayazeed A, Hayman E, Moghadamfalahi M, Cain D
J Radiol Case Rep 2014 Feb;8(2):63-9. Epub 2014 Feb 1 doi: 10.3941/jrcr.v8i2.1568. PMID: 24967021Free PMC Article
Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N, Frishman WH
Cardiol Rev 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. PMID: 22143279
Vascular Ehlers-Danlos syndrome: a case with fatal outcome.
Morais P, Mota A, Eloy C, Lopes JM, Torres F, Palmeiro A, Tavares P, Azevedo F
Dermatol Online J 2011 Apr 15;17(4):1. PMID: 21549076
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M
Orphanet J Rare Dis 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. PMID: 19883511Free PMC Article

Clinical prediction guides

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
Morlino S, Dordoni C, Sperduti I, Venturini M, Celletti C, Camerota F, Colombi M, Castori M
Am J Med Genet A 2017 Apr;173(4):914-929. Epub 2017 Mar 7 doi: 10.1002/ajmg.a.38106. PMID: 28266107
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.
Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F
Dis Markers 2015;2015:828970. Epub 2015 Oct 4 doi: 10.1155/2015/828970. PMID: 26504261Free PMC Article
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A
Br J Dermatol 2010 Oct;163(4):704-10. doi: 10.1111/j.1365-2133.2010.09874.x. PMID: 20518783
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M
Orphanet J Rare Dis 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. PMID: 19883511Free PMC Article

Recent systematic reviews

Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.
Mehr SE, Barbul A, Shibao CA
Clin Auton Res 2018 Aug;28(4):411-421. Epub 2018 Mar 16 doi: 10.1007/s10286-018-0519-x. PMID: 29549458Free PMC Article

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